Literature DB >> 5811159

Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise.

H Linderholm, R Müller, T Ringqvist, R Sörnäs.   

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Year:  1969        PMID: 5811159     DOI: 10.1111/j.0954-6820.1969.tb07314.x

Source DB:  PubMed          Journal:  Acta Med Scand        ISSN: 0001-6101


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  14 in total

1.  Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms.

Authors:  Katja Heinicke; Tanja Taivassalo; Phil Wyrick; Helen Wood; Tony G Babb; Ronald G Haller
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2011-08-03       Impact factor: 3.619

2.  Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

Authors:  Angelica Nordin; Elin Larsson; Lars-Eric Thornell; Monica Holmberg
Journal:  Hum Genet       Date:  2010-12-17       Impact factor: 4.132

3.  Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency.

Authors:  R G Haller; S F Lewis; R W Estabrook; S DiMauro; S Servidei; D W Foster
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

4.  Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.

Authors:  Daniel R Crooks; Suh Young Jeong; Wing-Hang Tong; Manik C Ghosh; Hayden Olivierre; Ronald G Haller; Tracey A Rouault
Journal:  J Biol Chem       Date:  2012-10-03       Impact factor: 5.157

5.  Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.

Authors:  U Drugge; M Holmberg; G Holmgren; B G Almay; H Linderholm
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

6.  Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.

Authors:  R G Haller; K G Henriksson; L Jorfeldt; E Hultman; R Wibom; K Sahlin; N H Areskog; M Gunder; K Ayyad; C G Blomqvist
Journal:  J Clin Invest       Date:  1991-10       Impact factor: 14.808

Review 7.  Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

Authors:  Nunziata Maio; Tracey A Rouault
Journal:  Biochim Biophys Acta       Date:  2014-09-19

8.  Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Authors:  Fanny Mochel; Melanie A Knight; Wing-Hang Tong; Dena Hernandez; Karen Ayyad; Tanja Taivassalo; Peter M Andersen; Andrew Singleton; Tracey A Rouault; Kenneth H Fischbeck; Ronald G Haller
Journal:  Am J Hum Genet       Date:  2008-02-14       Impact factor: 11.025

9.  Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.

Authors:  Daniel R Crooks; Thanemozhi G Natarajan; Suh Young Jeong; Chuming Chen; Sun Young Park; Hongzhan Huang; Manik C Ghosh; Wing-Hang Tong; Ronald G Haller; Cathy Wu; Tracey A Rouault
Journal:  Hum Mol Genet       Date:  2013-08-13       Impact factor: 6.150

10.  Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

Authors:  L Nashef; R J Lane
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-09       Impact factor: 10.154

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